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Diseases

Genetic and Rare Diseases Information Center (GARD)

Neuronal ceroid lipofuscinosis 3


Other Names for this Disease
  • Juvenile neuronal ceroid lipofuscinosis
  • Vogt Spielmeyer disease
  • Spielmeyer Sjogren disease
  • CLN3 disease, juvenile
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Cause

Newline Maker

What causes neuronal ceroid lipofuscinosis 3?

Neuronal ceroid lipofuscinosis 3 (CLN3-NCL) is caused by changes (mutations) in the CLN3 gene. This gene provides instructions for making a protein whose function is unknown. However, it appears to be important for the normal function of cell structures call lysosomes.[1]

Although researchers do not completely understand how mutations in the CLN3 gene lead to the signs and symptoms of CLN3-NCL, they appear to disrupt the function of lysosomes (structures in the cell that normally digest and recycle different substances). When the lysosomes don't work properly, lipopigments (materials made of fats and proteins) build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues. Researchers believe that this build up plays a key role in the development of the many features of CLN3-NCL.[1]
Last updated: 9/1/2015

References
  1. Juvenile Batten disease. Genetics Home Reference. September 2013; http://ghr.nlm.nih.gov/condition/juvenile-batten-disease.


Other Names for this Disease
  • Juvenile neuronal ceroid lipofuscinosis
  • Vogt Spielmeyer disease
  • Spielmeyer Sjogren disease
  • CLN3 disease, juvenile
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.